Miryam Carecchio

Miryam Carecchio

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Miryam Carecchio

Miryam Carecchio

Publications by authors named "Miryam Carecchio"

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51Publications

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Adult diagnosis of Cockayne syndrome.

Neurology 2019 11;93(19):854-855

From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.), Catholic University, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000008449DOI Listing
November 2019

Parkinsonism in neurometabolic diseases.

Authors:
Miryam Carecchio

Int Rev Neurobiol 2019 21;149:355-376. Epub 2019 Nov 21.

Department of Neuroscience, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1016/bs.irn.2019.10.009DOI Listing
November 2019

Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.

Neurogenetics 2019 Aug 13;20(3):161-164. Epub 2019 Jun 13.

Department of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1007/s10048-019-00580-7DOI Listing
August 2019

Inborn errors of coenzyme A metabolism and neurodegeneration.

J Inherit Metab Dis 2019 01;42(1):49-56

Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute C. Besta, Via Temolo 4, Milan 20126, Italy.

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http://dx.doi.org/10.1002/jimd.12026DOI Listing
January 2019

ATP1A3-related disorders: An update.

Eur J Paediatr Neurol 2018 Mar 21;22(2):257-263. Epub 2017 Dec 21.

Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, 20131 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.12.009DOI Listing
March 2018

Diagnosis and treatment of pediatric onset isolated dystonia.

Eur J Paediatr Neurol 2018 Mar 17;22(2):238-244. Epub 2018 Jan 17.

Department of Paediatric Neurology, IRCCS Fondazione C. Besta, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173191
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http://dx.doi.org/10.1016/j.ejpn.2018.01.006DOI Listing
March 2018

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

Eur J Paediatr Neurol 2018 Mar 31;22(2):285-291. Epub 2018 Jan 31.

Molecular Neurogenetics Unit, IRCCS Foundation Neurological Institute C. Besta, Via L. Temolo 4, 20126 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.013DOI Listing
March 2018

CANS: Childhood acute neuropsychiatric syndromes.

Eur J Paediatr Neurol 2018 03;22(2):316-320

Fondazione IRCSS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173191
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http://dx.doi.org/10.1016/j.ejpn.2018.01.011DOI Listing
March 2018

Growth Arrest Specific 6 Concentration is Increased in the Cerebrospinal Fluid of Patients with Alzheimer's Disease.

J Alzheimers Dis 2017 ;55(1):59-65

Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale, Novara, Italy.

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http://dx.doi.org/10.3233/JAD-160599DOI Listing
February 2018

SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment.

J Neurol Sci 2017 12 16;383:39-41. Epub 2017 Oct 16.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.jns.2017.10.022DOI Listing
December 2017

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Mov Disord 2017 11 26;32(11):1646-1647. Epub 2017 Sep 26.

Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.

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http://dx.doi.org/10.1002/mds.27175DOI Listing
November 2017

Emerging Monogenic Complex Hyperkinetic Disorders.

Curr Neurol Neurosci Rep 2017 Oct 30;17(12):97. Epub 2017 Oct 30.

Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, IL, 60611, USA.

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http://dx.doi.org/10.1007/s11910-017-0806-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5662693PMC
October 2017

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.

Front Neurol 2017 21;8:385. Epub 2017 Aug 21.

Department of Biomedical and Specialistic Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, Ferrara University, Ferrara, Italy.

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http://dx.doi.org/10.3389/fneur.2017.00385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573443PMC
August 2017

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Neurogenetics 2017 Jul 29;18(3):175-178. Epub 2017 Jun 29.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Via L. Temolo n. 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-017-0518-4DOI Listing
July 2017

Parkinson disease in Gaucher disease.

J Clin Mov Disord 2017 23;4. Epub 2017 May 23.

Molecular Neurogenetics Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1186/s40734-017-0054-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440911PMC
May 2017

DYT2 screening in early-onset isolated dystonia.

Eur J Paediatr Neurol 2017 Mar 13;21(2):269-271. Epub 2016 Oct 13.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.10.001DOI Listing
March 2017

Recent advances in genetics of chorea.

Curr Opin Neurol 2016 Aug;29(4):486-95

aDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom bMolecular Neurogenetics Unit cDepartment of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute dDepartment of Molecular and Translational Medicine, University of Milan Bicocca, Milan, Italy.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0000000000000352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934600PMC
August 2016

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

Parkinsonism Relat Disord 2016 Feb 18;23:66-71. Epub 2015 Dec 18.

Molecular Neurogenetics Unit, IRCCS Neurological Institute C. Besta, Via L. Temolo 4, 20126 Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020153006
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http://dx.doi.org/10.1016/j.parkreldis.2015.12.012DOI Listing
February 2016

GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia.

Mov Disord 2015 Jun 27;30(7):910. Epub 2015 May 27.

Neurology Department, University of Kiel, Kiel, Germany.

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http://dx.doi.org/10.1002/mds.26283DOI Listing
June 2015

Adult-Onset Focal Chorea in Fahr's Disease Resulting From Mutation: A Novel Phenotype.

Mov Disord Clin Pract 2015 Mar 6;2(1):79-80. Epub 2014 Dec 6.

Molecular Neurogenetics Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.

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http://dx.doi.org/10.1002/mdc3.12114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353343PMC
March 2015

Predicting cognitive decline in Parkinson's disease: can we ask the genes?

Front Neurol 2014 27;5:224. Epub 2014 Oct 27.

Department of Neurology, University of Eastern Piedmont , Novara , Italy.

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http://dx.doi.org/10.3389/fneur.2014.00224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209831PMC
November 2014

Immunity and inflammation in neurodegenerative diseases.

Am J Neurodegener Dis 2013 21;2(2):89-107. Epub 2013 Jun 21.

Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, "Amedeo Avogadro" Novara, Italy ; Department of Health Sciences, University of Eastern Piedmont, "Amedeo Avogadro" Novara, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3703122PMC
July 2013

Movement disorders in adult patients with classical galactosemia.

Mov Disord 2013 Jun 11;28(6):804-10. Epub 2013 Feb 11.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25348DOI Listing
June 2013

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Mov Disord 2013 Jun 15;28(6):795-803. Epub 2013 Feb 15.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25394DOI Listing
June 2013

The role of osteopontin in neurodegenerative diseases.

J Alzheimers Dis 2011 ;25(2):179-85

Department of Neurology, Amedeo Avogadro University, Novara, Italy.

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http://dx.doi.org/10.3233/JAD-2011-102151DOI Listing
November 2011

Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred.

J Alzheimers Dis 2011 ;24(2):253-9

Department of Neurological Sciences, University of Milan, IRCCS Fondazione Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.3233/JAD-2011-101704DOI Listing
August 2011

Movement disorders in adult surviving patients with maple syrup urine disease.

Mov Disord 2011 Jun 11;26(7):1324-8. Epub 2011 Apr 11.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.23629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235248PMC
June 2011

Complex movement disorders in primary antiphospholipid syndrome: a case report.

J Neurol Sci 2009 Jun 3;281(1-2):101-3. Epub 2009 Apr 3.

Department of Neurology, Amedeo Avogadro University, Corso Mazzini 18, 28100 Novara, Italy.

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http://dx.doi.org/10.1016/j.jns.2009.03.011DOI Listing
June 2009

Defective Fas-mediated T-cell apoptosis predicts acute onset CIDP.

J Peripher Nerv Syst 2009 Jun;14(2):101-6

Interdisciplinary Research Centre of Autoimmune Diseases (IRCAD), A. Avogadro University of Eastern Piedmont, Novara, Italy.

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http://dx.doi.org/10.1111/j.1529-8027.2009.00219.xDOI Listing
June 2009